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1دورية أكاديمية
المؤلفون: Masaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, Nana Akiyama, Yohei Sugiyama, Tomohiro Ebihara, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Shuichiro Umetsu, Ayano Inui, Tomoo Fujisawa, Ken Tanikawa, Reiko Ito, Akinari Fukuda, Jun Murakami, Shunsaku Kaji, Mureo Kasahara, Kazuo Shiraki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
مصطلحات موضوعية: MPV17, DGUOK, POLG, MICOS13, Liver transplantation, Mitochondrial disease, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Keiichi Hirono, Fukiko Ichida, Natsuhito Nishio, Minako Ogawa‐Tominaga, Takuya Fushimi, Rene′ G. Feichtinger, Johannes A. Mayr, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Akira Ohtake, Kei Murayama
المصدر: Clinical Case Reports, Vol 7, Iss 3, Pp 553-557 (2019)
مصطلحات موضوعية: cardiomyopathy, mitochondrial disease, TMEM70, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2050-0904
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3دورية أكاديمية
المؤلفون: Yohei Sugiyama, Masaru Shimura, Minako Ogawa-Tominaga, Tomohiro Ebihara, Yoshina Kinouchi, Keitaro Isozaki, Tetsuro Matsuhashi, Makiko Tajika, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoki Ishida, Kayo Mizutani, Tomoko Tsuruoka, Kei Murayama
المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100622- (2020)
مصطلحات موضوعية: N-carbamylglutamate, Carbamyl phosphate synthetase 1 deficiency, Urea cycle disorder, Hyperammonemia, Liver transplantation, Acute therapy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Ayako Matsunaga, Minako Ogawa-Tominaga, Nana Akiyama, Yuki Naruke, Hiroshi Horie, Tokiko Fukuda, Hideo Sugie, Ayano Inui, Kei Murayama
المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100601- (2020)
مصطلحات موضوعية: Andersen disease, GBE1, GSD IV, M2BPGi, Nutrition therapy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5
المؤلفون: Tomohiro Ebihara, Yohei Sugiyama, Taro Nagatomo, Keiko Ichimoto, Makiko Tajika, Minako Ogawa-Tominaga, Nana Akiyama, Yasushi Okazaki, Kei Murayama, Atsuko Imai-Okazaki, Takuya Fushimi, Yukiko Yatsuka, Masaru Shimura, Kazuhiro R. Nitta, Yoshiteru Osone, Tetsuro Matsuhashi, Yoshihito Kishita, Akira Ohtake, Tomoko Tsuruoka, Ayako Matsunaga
المصدر: Archives of Disease in Childhood - Fetal and Neonatal Edition. 107:329-334
مصطلحات موضوعية: medicine.medical_specialty, Mitochondrial DNA, Mitochondrial Diseases, business.industry, Mitochondrial disease, Infant, Newborn, Cardiomyopathy, Obstetrics and Gynecology, Retrospective cohort study, General Medicine, Neonatal onset, Disease, Prognosis, medicine.disease, DNA, Mitochondrial, Mitochondrial respiratory chain, Internal medicine, Mutation, Pediatrics, Perinatology and Child Health, medicine, Etiology, Humans, Leigh Disease, business
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6
المؤلفون: Takuya Fushimi, Atsuhito Takeda, Shuko Nojiri, Hiroko Harashima, Kazuhiro R. Nitta, Masakazu Kohda, Ayako Matsunaga, Yasushi Okazaki, Yasushi Sakata, Akira Ohtake, Minako Ogawa-Tominaga, Makiko Tajika, Tetsuro Matsuhashi, Akihiro Nakaya, Tomoko Hirata, Yohei Sugiyama, Ayumu Sugiura, Kei Murayama, Tomohiro Ebihara, Keiko Ichimoto, Atsuko Imai-Okazaki, Masaru Shimura, Yoshihito Kishita, Yukiko Yatsuka, Tomoko Tsuruoka, Shigetoyo Kogaki
المصدر: International Journal of Cardiology. 341:48-55
مصطلحات موضوعية: medicine.medical_specialty, Mitochondrial DNA, Mitochondrial Diseases, business.industry, Mitochondrial disease, Hazard ratio, Infant, Newborn, Cardiomyopathy, Neonatal onset, Prognosis, medicine.disease, Gastroenterology, Confidence interval, Muscle hypertrophy, Risk Factors, Internal medicine, medicine, Humans, Hypertrophy, Left Ventricular, Risk factor, Cardiomyopathies, Child, Cardiology and Cardiovascular Medicine, business, Genetic Background
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7
المؤلفون: Holger Prokisch, Changhong Ren, Fang Fang, Masaru Shimura, Ling Chen, Rui Ban, Shufang Li, Matthias Elstner, Ye Wu, Manting Xu, Zhimei Liu, Minako Ogawa-Tominaga, Tieliu Shi, Suzhen Sun, Li Zhang, Kei Murayama
المصدر: Journal of Medical Genetics. 59:351-357
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Mutation, Muscle biopsy, medicine.diagnostic_test, business.industry, medicine.disease, medicine.disease_cause, ddc, Leukoencephalopathy, Complementation, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Skin biopsy, Genetics, Medicine, Missense mutation, business, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing, Progressive cavitating leukoencephalopathy
وصف الملف: application/pdf
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8
المؤلفون: Junling Wang, Minako Ogawa-Tominaga, Jianing Wang, Weihua Zhang, Fang Fang, Xiaohui Wang, Kei Murayama, Victor Wei Zhang, Masaru Shimura, Li Zhang, Wei Shi, Junlan Lv, Zhimei Liu
المصدر: Mitochondrion. 57:222-229
مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, China, Oxidoreductases Acting on CH-CH Group Donors, Pathology, medicine.medical_specialty, genetic structures, Protein Conformation, Mitochondrial disease, Mutation, Missense, Disease, Crystallography, X-Ray, medicine.disease_cause, Basal Ganglia, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Atrophy, Exome Sequencing, Basal ganglia, medicine, Humans, Child, Molecular Biology, Cells, Cultured, Exome sequencing, Dystonia, Mutation, Thioctic Acid, business.industry, Homozygote, Cell Biology, medicine.disease, eye diseases, Pedigree, Lipoic acid, 030104 developmental biology, chemistry, Molecular Medicine, business, 030217 neurology & neurosurgery
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9
المؤلفون: Tomoko Tsuruoka, Atsuko Imai-Okazaki, Akira Ohtake, Makiko Tajika, Minako Ogawa-Tominaga, Masaru Shimura, Taro Yamazaki, Ayako Matsunaga, Yasushi Okazaki, Erika Ogawa, Yoshihito Kishita, Takuya Fushimi, Keiko Ichimoto, Ichiro Morioka, Kei Murayama, Tatsuo Fuchigami, Masakazu Kohda, Mika Ishige
المصدر: Journal of Inherited Metabolic Disease
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, medicine.medical_treatment, early onset, Kaplan-Meier Estimate, Neonatal onset, DNA, Mitochondrial, Disease course, genetic diagnosis, Young Adult, Japan, Genetics, medicine, Humans, SURF1, Age of Onset, Child, Genetics (clinical), Mechanical ventilation, business.industry, Mortality rate, Infant, Original Articles, DNA, Leigh syndrome, mortality, Magnetic Resonance Imaging, Survival Rate, Japanese patients, Phenotype, Mild symptoms, Child, Preschool, Mutation, Breathing, Original Article, Female, Leigh Disease, Genetic diagnosis, business
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10دورية أكاديمية
المؤلفون: Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Tetsuro Matsuhashi, Keiko Ichimoto, Ayako Matsunaga, Nana Akiyama, Minako Ogawa-Tominaga, Yukiko Yatsuka, Nitta, Kazuhiro R., Yoshihito Kishita, Takuya Fushimi, Atsuko Imai-Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
المصدر: Archives of Disease in Childhood -- Fetal & Neonatal Edition; May2022, Vol. 107 Issue 3, pF329-F334, 6p
مصطلحات موضوعية: DNA, GENETIC mutation, MITOCHONDRIAL pathology, PROGNOSIS, LEIGH disease